Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00430:Kcnh4'

4497

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnh4

Ensembl Gene

ENSMUSG00000035355

Gene Name

potassium voltage-gated channel, subfamily H (eag-related), member 4

Synonyms

BEC2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00430

Quality Score

Status

Chromosome

Chromosomal Location

100740376-100759942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100757654 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 75 (T75A)

Ref Sequence

ENSEMBL: ENSMUSP00000102986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055083] [ENSMUST00000107360] [ENSMUST00000107361] [ENSMUST00000107363]

Predicted Effect

probably benign
Transcript: ENSMUST00000055083

SMART Domains

Protein: ENSMUSP00000057578
Gene: ENSMUSG00000045471

Domain	Start	End	E-Value	Type
Pfam:Orexin	1	129	2.2e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107360

SMART Domains

Protein: ENSMUSP00000102983
Gene: ENSMUSG00000045471

Domain	Start	End	E-Value	Type
Pfam:Orexin	1	106	2.3e-60	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107361
AA Change: T75A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: T75A

Domain	Start	End	E-Value	Type
PAS	16	88	1.41e-1	SMART
PAC	94	136	4.88e-5	SMART
low complexity region	155	168	N/A	INTRINSIC
Pfam:Ion_trans	226	486	1.5e-32	PFAM
Pfam:Ion_trans_2	412	480	2.3e-12	PFAM
cNMP	556	681	1.27e-12	SMART
low complexity region	726	735	N/A	INTRINSIC
low complexity region	766	787	N/A	INTRINSIC
coiled coil region	874	911	N/A	INTRINSIC
low complexity region	981	1006	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107363
AA Change: T75A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: T75A

Domain	Start	End	E-Value	Type
PAS	16	88	1.41e-1	SMART
PAC	94	136	4.88e-5	SMART
low complexity region	155	168	N/A	INTRINSIC
transmembrane domain	228	250	N/A	INTRINSIC
Pfam:Ion_trans	265	474	1.1e-17	PFAM
Pfam:Ion_trans_2	412	480	2.2e-12	PFAM
cNMP	556	681	1.27e-12	SMART
low complexity region	726	735	N/A	INTRINSIC
low complexity region	766	787	N/A	INTRINSIC
coiled coil region	874	911	N/A	INTRINSIC
low complexity region	981	1006	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,784,202	S17N	probably benign	Het
Atp2a1	C	T	7: 126,447,216	W72*	probably null	Het
Baz2b	C	A	2: 59,912,795	A1611S	probably benign	Het
Cep290	A	T	10: 100,508,724	I475L	probably benign	Het
Cpsf4l	C	T	11: 113,709,218		probably benign	Het
Crispld2	A	T	8: 120,033,560	R408S	probably damaging	Het
Cyp3a25	A	T	5: 145,993,360	M145K	probably damaging	Het
Dexi	A	T	16: 10,542,445	D82E	probably benign	Het
Epyc	A	T	10: 97,681,147	K282N	probably benign	Het
Ercc6l2	G	T	13: 63,858,319	V588F	probably damaging	Het
Galnt14	C	T	17: 73,494,232	V532I	probably damaging	Het
Grk1	C	A	8: 13,413,128	Y383*	probably null	Het
Gtpbp1	G	T	15: 79,719,136	G609W	possibly damaging	Het
Hadha	C	T	5: 30,120,147	V682M	possibly damaging	Het
Igdcc3	A	C	9: 65,182,019	D499A	probably damaging	Het
Kcna10	T	G	3: 107,194,728	V225G	probably damaging	Het
Lama4	A	G	10: 39,045,704	E407G	possibly damaging	Het
Mrpl13	T	A	15: 55,540,201	K105N	probably damaging	Het
Pcdhb2	A	T	18: 37,296,463		probably null	Het
Pck2	C	T	14: 55,543,944	A209V	probably benign	Het
Plce1	A	G	19: 38,725,017	E1243G	probably damaging	Het
Plekhh2	A	T	17: 84,521,775	M25L	probably benign	Het
Rasef	G	A	4: 73,771,425	Q117*	probably null	Het
Rbm14	A	G	19: 4,811,426	V28A	probably damaging	Het
Rcan2	A	G	17: 43,836,384	T38A	probably benign	Het
Rin1	A	G	19: 5,051,376	N96S	probably benign	Het
Rrp12	A	G	19: 41,877,334		probably null	Het
Slco1a6	A	T	6: 142,101,651	C404*	probably null	Het
St6galnac3	T	C	3: 153,509,403	N38S	probably benign	Het
Top2b	T	A	14: 16,422,692	S1376R	probably benign	Het
Trip11	T	C	12: 101,886,147	I553V	probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Uggt2	A	T	14: 119,026,429	L1063*	probably null	Het
Zmym6	T	A	4: 127,101,949	C269*	probably null	Het

Other mutations in Kcnh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Kcnh4	APN	11	100756995	splice site	probably benign
IGL02031:Kcnh4	APN	11	100745823	missense	probably damaging	1.00
IGL02346:Kcnh4	APN	11	100756942	missense	possibly damaging	0.46
IGL02674:Kcnh4	APN	11	100746894	missense	possibly damaging	0.58
IGL02903:Kcnh4	APN	11	100757654	missense	possibly damaging	0.50
IGL03152:Kcnh4	APN	11	100745772	missense	probably benign	0.00
R0032:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0033:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0066:Kcnh4	UTSW	11	100757800	missense	probably benign	0.11
R0066:Kcnh4	UTSW	11	100757800	missense	probably benign	0.11
R0242:Kcnh4	UTSW	11	100755699	missense	probably damaging	1.00
R0242:Kcnh4	UTSW	11	100755699	missense	probably damaging	1.00
R0244:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0310:Kcnh4	UTSW	11	100746169	missense	probably benign	0.04
R0330:Kcnh4	UTSW	11	100757743	missense	probably damaging	1.00
R0345:Kcnh4	UTSW	11	100757681	missense	probably benign	0.08
R0436:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0466:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0468:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R0487:Kcnh4	UTSW	11	100750258	missense	probably damaging	0.99
R0562:Kcnh4	UTSW	11	100750244	missense	possibly damaging	0.80
R0613:Kcnh4	UTSW	11	100746932	missense	probably benign	0.19
R1077:Kcnh4	UTSW	11	100752338	missense	possibly damaging	0.72
R1705:Kcnh4	UTSW	11	100741772	missense	probably benign
R1840:Kcnh4	UTSW	11	100745341	missense	possibly damaging	0.46
R2114:Kcnh4	UTSW	11	100759595	missense	probably damaging	1.00
R4448:Kcnh4	UTSW	11	100755907	missense	probably benign	0.00
R4823:Kcnh4	UTSW	11	100755174	missense	probably damaging	1.00
R4865:Kcnh4	UTSW	11	100749743	missense	probably damaging	1.00
R4963:Kcnh4	UTSW	11	100752253	missense	probably damaging	1.00
R4977:Kcnh4	UTSW	11	100746833	missense	probably damaging	1.00
R5228:Kcnh4	UTSW	11	100746896	missense	probably damaging	1.00
R5385:Kcnh4	UTSW	11	100752250	missense	probably damaging	1.00
R5414:Kcnh4	UTSW	11	100746896	missense	probably damaging	1.00
R5682:Kcnh4	UTSW	11	100749802	missense	possibly damaging	0.82
R5945:Kcnh4	UTSW	11	100745322	missense	probably damaging	1.00
R6434:Kcnh4	UTSW	11	100750279	missense	probably damaging	0.97
R6505:Kcnh4	UTSW	11	100757085	missense	probably benign	0.39
R7263:Kcnh4	UTSW	11	100741817	missense	probably benign	0.06
R7270:Kcnh4	UTSW	11	100747646	missense	probably benign
R7353:Kcnh4	UTSW	11	100757199	missense	probably benign	0.18
R7355:Kcnh4	UTSW	11	100752443	missense	possibly damaging	0.92
R7544:Kcnh4	UTSW	11	100757080	missense	probably benign	0.25
R7563:Kcnh4	UTSW	11	100741854	missense	probably benign	0.00
R7664:Kcnh4	UTSW	11	100750322	missense	probably damaging	1.00
R7972:Kcnh4	UTSW	11	100752452	missense	probably damaging	0.98
R8146:Kcnh4	UTSW	11	100755279	missense	probably damaging	1.00
R8166:Kcnh4	UTSW	11	100741886	missense	probably benign
R8234:Kcnh4	UTSW	11	100752267	missense	possibly damaging	0.83
R8295:Kcnh4	UTSW	11	100749697	missense	probably benign	0.17
R8318:Kcnh4	UTSW	11	100752328	missense	probably damaging	1.00
R8347:Kcnh4	UTSW	11	100757749	missense	probably damaging	1.00
R8413:Kcnh4	UTSW	11	100749793	missense	possibly damaging	0.60
R8464:Kcnh4	UTSW	11	100757184	missense	probably damaging	1.00
X0025:Kcnh4	UTSW	11	100750243	missense	possibly damaging	0.91
X0061:Kcnh4	UTSW	11	100756907	missense	probably benign	0.24

Posted On

2012-04-20